A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990



Internal ID15541273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31789055..31833674hg38UCSC Ensembl
Outerchr12:31941989..31986608hg19UCSC Ensembl
Outerchr12:31833256..31877875hg18UCSC Ensembl
Outerchr12:31833256..31877875hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3844620
hg1944620
hg1844620
hg1744620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv663
Supporting Variants
SamplesNA18555
Known GenesH3F3C
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv1990
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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